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Intellectual disability, X-linked 14(MRX14; XLID14)

MedGen UID:
163231
Concept ID:
C0796220
Mental or Behavioral Dysfunction
Synonyms: Mental retardation, X-linked 14; Mental retardation, X-linked nonspecific, type 14; XLID14
 
Monarch Initiative: MONDO:0010236
OMIM®: 300062

Definition

Nonsyndromic mental retardation with inconsistent abnormalities. [from MCA/MR]

Clinical features

From HPO
Macroorchidism
MedGen UID:
224727
Concept ID:
C1263023
Finding
The presence of abnormally large testes.
Intellectual disability, moderate
MedGen UID:
7680
Concept ID:
C0026351
Mental or Behavioral Dysfunction
Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49.
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Poor speech
MedGen UID:
341172
Concept ID:
C1848207
Finding
Abnormal facial shape
MedGen UID:
98409
Concept ID:
C0424503
Finding
An abnormal morphology (form) of the face or its components.

Professional guidelines

PubMed

Vilvarajan S, McDonald M, Douglas L, Newham J, Kirkland R, Tzannes G, Tay D, Christodoulou J, Thompson S, Ellaway C
Genes (Basel) 2023 Aug 11;14(8) doi: 10.3390/genes14081607. PMID: 37628658Free PMC Article
Gupta AO, Raymond G, Pierpont EI, Kemp S, McIvor RS, Rayannavar A, Miller B, Lund TC, Orchard PJ
Expert Opin Biol Ther 2022 Sep;22(9):1151-1162. Epub 2022 Sep 19 doi: 10.1080/14712598.2022.2124857. PMID: 36107226
Engelen M, Kemp S, Poll-The BT
Curr Neurol Neurosci Rep 2014 Oct;14(10):486. doi: 10.1007/s11910-014-0486-0. PMID: 25115486

Recent clinical studies

Etiology

Cappa M, Todisco T, Bizzarri C
Front Endocrinol (Lausanne) 2023;14:1309053. Epub 2023 Nov 16 doi: 10.3389/fendo.2023.1309053. PMID: 38034003Free PMC Article
Vilvarajan S, McDonald M, Douglas L, Newham J, Kirkland R, Tzannes G, Tay D, Christodoulou J, Thompson S, Ellaway C
Genes (Basel) 2023 Aug 11;14(8) doi: 10.3390/genes14081607. PMID: 37628658Free PMC Article
Gupta AO, Raymond G, Pierpont EI, Kemp S, McIvor RS, Rayannavar A, Miller B, Lund TC, Orchard PJ
Expert Opin Biol Ther 2022 Sep;22(9):1151-1162. Epub 2022 Sep 19 doi: 10.1080/14712598.2022.2124857. PMID: 36107226
Storey E
Semin Neurol 2014 Jul;34(3):280-92. Epub 2014 Sep 5 doi: 10.1055/s-0034-1386766. PMID: 25192506
Lisik MZ, Sieron AL
Med Sci Monit 2008 Nov;14(11):RA221-9. PMID: 18971887

Diagnosis

Cappa M, Todisco T, Bizzarri C
Front Endocrinol (Lausanne) 2023;14:1309053. Epub 2023 Nov 16 doi: 10.3389/fendo.2023.1309053. PMID: 38034003Free PMC Article
Vilvarajan S, McDonald M, Douglas L, Newham J, Kirkland R, Tzannes G, Tay D, Christodoulou J, Thompson S, Ellaway C
Genes (Basel) 2023 Aug 11;14(8) doi: 10.3390/genes14081607. PMID: 37628658Free PMC Article
Gonzalez JN, Goldman S, Carter MT, Bain JM
Genes (Basel) 2023 May 26;14(6) doi: 10.3390/genes14061154. PMID: 37372334Free PMC Article
Reuter MS, Tawamie H, Buchert R, Hosny Gebril O, Froukh T, Thiel C, Uebe S, Ekici AB, Krumbiegel M, Zweier C, Hoyer J, Eberlein K, Bauer J, Scheller U, Strom TM, Hoffjan S, Abdelraouf ER, Meguid NA, Abboud A, Al Khateeb MA, Fakher M, Hamdan S, Ismael A, Muhammad S, Abdallah E, Sticht H, Wieczorek D, Reis A, Abou Jamra R
JAMA Psychiatry 2017 Mar 1;74(3):293-299. doi: 10.1001/jamapsychiatry.2016.3798. PMID: 28097321
Storey E
Semin Neurol 2014 Jul;34(3):280-92. Epub 2014 Sep 5 doi: 10.1055/s-0034-1386766. PMID: 25192506

Therapy

Cappa M, Todisco T, Bizzarri C
Front Endocrinol (Lausanne) 2023;14:1309053. Epub 2023 Nov 16 doi: 10.3389/fendo.2023.1309053. PMID: 38034003Free PMC Article
Buchanan CB, Stallworth JL, Joy AE, Dixon RE, Scott AE, Beisang AA, Benke TA, Glaze DG, Haas RH, Heydemann PT, Jones MD, Lane JB, Lieberman DN, Marsh ED, Neul JL, Peters SU, Ryther RC, Skinner SA, Standridge SM, Kaufmann WE, Percy AK
J Neurodev Disord 2022 May 14;14(1):31. doi: 10.1186/s11689-022-09432-2. PMID: 35568815Free PMC Article
Cartier N, Hacein-Bey-Abina S, Bartholomae CC, Bougnères P, Schmidt M, Kalle CV, Fischer A, Cavazzana-Calvo M, Aubourg P
Methods Enzymol 2012;507:187-98. doi: 10.1016/B978-0-12-386509-0.00010-7. PMID: 22365775
Bauters M, Weuts A, Vandewalle J, Nevelsteen J, Marynen P, Van Esch H, Froyen G
Cytogenet Genome Res 2008;123(1-4):44-53. Epub 2009 Mar 11 doi: 10.1159/000184691. PMID: 19287138
Tiberio G
Acta Genet Med Gemellol (Roma) 1994;43(3-4):207-14. doi: 10.1017/s0001566000001963. PMID: 8588495

Prognosis

Videbæk C, Melgaard L, Lund AM, Grønborg SW
Mol Genet Metab 2023 Dec;140(4):107734. Epub 2023 Nov 10 doi: 10.1016/j.ymgme.2023.107734. PMID: 37979237
Vilvarajan S, McDonald M, Douglas L, Newham J, Kirkland R, Tzannes G, Tay D, Christodoulou J, Thompson S, Ellaway C
Genes (Basel) 2023 Aug 11;14(8) doi: 10.3390/genes14081607. PMID: 37628658Free PMC Article
Bozarth XL, Lopez J, Fang H, Lee-Eng J, Duan Z, Deng X
Genes (Basel) 2023 Mar 31;14(4) doi: 10.3390/genes14040852. PMID: 37107610Free PMC Article
Mao C, Li J, Huang X, Wang J, Chu S, Zhang Y, Dong L, Liu C, Lu L, Qiu L, Chen W, Peng B, Cui L, Gao J
Neurol Sci 2022 May;43(5):3255-3263. Epub 2022 Jan 8 doi: 10.1007/s10072-021-05859-y. PMID: 34997422
Lisik MZ, Sieron AL
Med Sci Monit 2008 Nov;14(11):RA221-9. PMID: 18971887

Clinical prediction guides

Cappa M, Todisco T, Bizzarri C
Front Endocrinol (Lausanne) 2023;14:1309053. Epub 2023 Nov 16 doi: 10.3389/fendo.2023.1309053. PMID: 38034003Free PMC Article
Jain V, Foo SH, Chooi S, Moss C, Goodwin R, Berland S, Clarke AJ, Davies SJ, Corrin S, Murch O, Doyle S, Graham GE, Greenhalgh L, Holder SE, Johnson D, Kumar A, Ladda RL, Sell S, Begtrup A, Lynch SA, McCann E, Østern R, Pottinger C, Splitt M, Fry AE
Eur J Hum Genet 2023 Dec;31(12):1421-1429. Epub 2023 Sep 14 doi: 10.1038/s41431-023-01447-0. PMID: 37704779Free PMC Article
Vilvarajan S, McDonald M, Douglas L, Newham J, Kirkland R, Tzannes G, Tay D, Christodoulou J, Thompson S, Ellaway C
Genes (Basel) 2023 Aug 11;14(8) doi: 10.3390/genes14081607. PMID: 37628658Free PMC Article
Mao C, Li J, Huang X, Wang J, Chu S, Zhang Y, Dong L, Liu C, Lu L, Qiu L, Chen W, Peng B, Cui L, Gao J
Neurol Sci 2022 May;43(5):3255-3263. Epub 2022 Jan 8 doi: 10.1007/s10072-021-05859-y. PMID: 34997422
Moortgat S, Berland S, Aukrust I, Maystadt I, Baker L, Benoit V, Caro-Llopis A, Cooper NS, Debray FG, Faivre L, Gardeitchik T, Haukanes BI, Houge G, Kivuva E, Martinez F, Mehta SG, Nassogne MC, Powell-Hamilton N, Pfundt R, Rosello M, Prescott T, Vasudevan P, van Loon B, Verellen-Dumoulin C, Verloes A, Lippe CV, Wakeling E, Wilkie AOM, Wilson L, Yuen A, Study D, Low KJ, Newbury-Ecob RA
Eur J Hum Genet 2018 Jan;26(1):64-74. Epub 2017 Nov 27 doi: 10.1038/s41431-017-0038-6. PMID: 29180823Free PMC Article

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